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In memoriam

C. Thomas Caskey (1938–2022)

  • First Published February 17, 2022
In memoriam

Deborah A. Nickerson (1954 –2021)

  • First Published January 24, 2022
Research

RET regulatory code is disrupted in Hirschsprung disease" > A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

  • First Published November 15, 2021
Method

Sequence-based correction of barcode bias in massively parallel reporter assays

  • First Published July 20, 2021
Method

cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants" > Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants

  • First Published August 23, 2018
Insight/Outlook

Genomic contributions to Mendelian disease

  • First Published May 2, 2011
Letter

Complex selection on 5′ splice sites in intron-rich organisms

  • First Published September 10, 2009
LETTER

Evolution of protein domain promiscuity in eukaryotes

  • First Published January 29, 2008
LETTER

Three distinct modes of intron dynamics in the evolution of eukaryotes

  • First Published May 10, 2007
LETTER

Evolutionarily conserved genes preferentially accumulate introns

  • First Published May 10, 2007
LETTER

Origins and impact of constraints in evolution of gene families

  • First Published October 19, 2006
LETTER

Human embryonic stem cells have a unique epigenetic signature

  • First Published August 9, 2006
Methods

On the probability that a novel variant is a disease-causing mutation

  • First Published June 17, 2005
Methods

Haplotype and Missing Data Inference in Nuclear Families

  • First Published July 15, 2004
LETTER

The Human MitoChip: A High-Throughput Sequencing Microarray for Mitochondrial Mutation Detection

  • First Published May 3, 2004
LETTER

Coelomata and Not Ecdysozoa: Evidence From Genome-Wide Phylogenetic Analysis

  • First Published January 5, 2004
RESOURCE

Development of Human Protein Reference Database as an Initial Platform for Approaching Systems Biology in Humans

  • First Published October 2, 2003
LETTER

Gene Loss, Protein Sequence Divergence, Gene Dispensability, Expression Level, and Interactivity Are Correlated in Eukaryotic Evolution

  • First Published October 2, 2003
ARTICLE

Linkage Disequilibrium and Haplotype Diversity in the Genes of the Renin–Angiotensin System: Findings From the Family Blood Pressure Program

  • First Published January 14, 2003
LETTER

The Role of Lineage-Specific Gene Family Expansion in the Evolution of Eukaryotes

  • First Published July 1, 2002
LETTER

Essential Genes Are More Evolutionarily Conserved Than Are Nonessential Genes in Bacteria

  • First Published May 16, 2002
METHODS

High-Throughput Variation Detection and Genotyping Using Microarrays

  • First Published October 15, 2001
LETTER

Sequence Variation Within the Fragile X Locus

  • First Published August 1, 2001
COMMENTARY

The Human Genome Sequence Expedition: Views from the “Base Camp”

  • First Published May 1, 2001
LETTER

Lineage-Specific Gene Expansions in Bacterial and Archaeal Genomes

  • First Published March 13, 2001
ARTICLE

Genome Alignment, Evolution of Prokaryotic Genome Organization, and Prediction of Gene Function Using Genomic Context

  • First Published February 8, 2001
ARTICLE

Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

  • First Published September 1, 2000
LETTER

From Complete Genomes to Measures of Substitution Rate Variability Within and Between Proteins

  • First Published July 1, 2000
LETTER

Parallel Genotyping of Human SNPs Using Generic High-density Oligonucleotide Tag Arrays

  • First Published June 1, 2000
ARTICLE

The Bacterial Replicative Helicase DnaB Evolved from a RecA Duplication

  • First Published January 1, 2000
RESEARCH

Comparative Genomics of the Archaea (Euryarchaeota): Evolution of Conserved Protein Families, the Stable Core, and the Variable Shell

  • First Published July 1, 1999
ARTICLE

Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome" > The Sox10Dom Mouse: Modeling the Genetic Variation of Waardenburg-Shah (WS4) Syndrome

  • First Published March 1, 1999
ARTICLE

Distribution of Protein Folds in the Three Superkingdoms of Life

  • First Published January 1, 1999
INSIGHT/OUTLOOK

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation

  • First Published December 1, 1998
RESEARCH

Novel Families of Putative Protein Kinases in Bacteria and Archaea: Evolution of the “Eukaryotic” Protein Kinase Superfamily

  • First Published October 1, 1998
RESEARCH

Analogous Enzymes: Independent Inventions in Enzyme Evolution

  • First Published August 1, 1998
RESEARCH

Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes

  • First Published February 1, 1998
REVIEW

Big Time for Small Genomes

  • First Published May 1, 1997
EDITORIAL

The End of the Beginning: The Race to Begin Human Genome Sequencing

  • First Published September 1, 1996
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